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Related Experiment Videos

Hereditary quadriceps myopathy.

M L Espir, W B Matthews

    Journal of Neurology, Neurosurgery, and Psychiatry
    |December 1, 1973
    PubMed
    Summary
    This summary is machine-generated.

    This study reports a rare familial myopathy with striking quadriceps muscle changes. The condition appears to be a hereditary muscular dystrophy, presenting benignly in adulthood.

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    Area of Science:

    • Neurology
    • Genetics
    • Muscle Diseases

    Background:

    • A unique familial myopathy case is presented, affecting multiple family members across generations.
    • The condition involves predominant quadriceps muscle pathology with distinct hypertrophy and atrophy.
    • Early symptoms include aching pain, with later involvement of pelvic girdle and hand muscles.

    Purpose of the Study:

    • To describe the clinical and pathological features of a novel hereditary myopathy.
    • To differentiate this condition from other neuromuscular disorders like polymyositis and spinal muscular atrophy.
    • To highlight the unusual presentation of quadriceps muscle hypertrophy and atrophy.

    Main Methods:

    • Clinical case reporting and detailed patient history.
    • Physical examination focusing on muscle strength, tone, and appearance.

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  • Differential diagnosis based on clinical presentation and known hereditary myopathies.

    • Main Results:

    • A familial pattern of myopathy was observed in a father, his three daughters, and a brother.
    • Quadriceps muscles showed prominent hypertrophy alongside patches of atrophy, creating an unusual appearance.
    • The disease onset was in adulthood, with a relatively benign and slowly progressive course.

    Conclusions:

    • The findings strongly suggest a hereditary selective muscular dystrophy.
    • Polymyositis is less likely due to the familial nature and specific muscle involvement.
    • A hereditary form of spinal muscular atrophy remains a possibility but is considered less probable.